Canonical Allele Identifier: CA2082768142
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332929_32332930delinsTA , CM000675.2:g.32332929_32332930delinsTA GRCh38
NC_000013.10:g.32907066_32907067delinsTA , CM000675.1:g.32907066_32907067delinsTA GRCh37
NC_000013.9:g.31805066_31805067delinsTA NCBI36
NG_012772.3:g.22450_22451delinsTA , LRG_293:g.22450_22451delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1451_1452delinsTA ENSP00000434898.2:p.Val484=
ENST00000528762.2:c.1451_1452delinsTA ENSP00000433168.2:p.Val484=
ENST00000530893.7:c.1082_1083delinsTA ENSP00000499438.2:p.Val361=
ENST00000665585.2:c.1451_1452delinsTA ENSP00000499570.2:p.Val484=
ENST00000666593.2:c.1451_1452delinsTA ENSP00000499256.2:p.Val484=
ENST00000700202.2:c.1451_1452delinsTA ENSP00000514856.2:p.Val484=
ENST00000700201.1:c.*1230_*1231delinsTA ENSP00000514855.1:n.*1230_*1231delinsTA
ENST00000380152.8:c.1451_1452delinsTA MANE Select ENSP00000369497.3:p.Val484=
ENST00000544455.6:c.1451_1452delinsTA ENSP00000439902.1:p.Val484=
ENST00000614259.2:c.1451_1452delinsTA ENSP00000506251.1:p.Val484=
ENST00000680887.1:c.1451_1452delinsTA ENSP00000505508.1:p.Val484=
ENST00000380152.7:c.1451_1452delinsTA ENSP00000369497.3:p.Val484=
ENST00000530893.6:n.1649_1650delinsTA
ENST00000544455.5:c.1451_1452delinsTA ENSP00000439902.1:p.Val484=
ENST00000614259.1:n.1451_1452delinsTA
NM_000059.3:c.1451_1452delinsTA , LRG_293t1:c.1451_1452delinsTA NP_000050.2:p.Val484=
XM_011535203.1:c.1451_1452delinsTA XP_011533505.1:p.Val484=
XM_011535204.1:c.1451_1452delinsTA XP_011533506.1:p.Val484=
XM_011535205.1:c.1451_1452delinsTA XP_011533507.1:p.Val484=
NM_000059.4:c.1451_1452delinsTA MANE Select NP_000050.3:p.Val484=